198 related articles for article (PubMed ID: 10360402)
1. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
Brodie SG; Kitoh H; Lachman RS; Nolasco LM; Mekikian PB; Wilcox WR
Am J Med Genet; 1999 Jun; 84(5):476-80. PubMed ID: 10360402
[TBL] [Abstract][Full Text] [Related]
2. Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
Kitoh H; Lachman RS; Brodie SG; Mekikian PB; Rimoin DL; Wilcox WR
Pediatr Radiol; 1998 Oct; 28(10):759-63. PubMed ID: 9799297
[TBL] [Abstract][Full Text] [Related]
3. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.
Neumann L; Kunze J; Uhl M; Stöver B; Zabel B; Spranger J
Pediatr Radiol; 2003 Nov; 33(11):786-90. PubMed ID: 12961049
[TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
Chen CP; Chern SR; Shih JC; Wang W; Yeh LF; Chang TY; Tzen CY
Prenat Diagn; 2001 Feb; 21(2):89-95. PubMed ID: 11241532
[TBL] [Abstract][Full Text] [Related]
5. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
Bonaventure J; Rousseau F; Legeai-Mallet L; Le Merrer M; Munnich A; Maroteaux P
Am J Med Genet; 1996 May; 63(1):148-54. PubMed ID: 8723101
[TBL] [Abstract][Full Text] [Related]
6. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
Wilcox WR; Tavormina PL; Krakow D; Kitoh H; Lachman RS; Wasmuth JJ; Thompson LM; Rimoin DL
Am J Med Genet; 1998 Jul; 78(3):274-81. PubMed ID: 9677066
[TBL] [Abstract][Full Text] [Related]
7. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Rousseau F; el Ghouzzi V; Delezoide AL; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J
Hum Mol Genet; 1996 Apr; 5(4):509-12. PubMed ID: 8845844
[TBL] [Abstract][Full Text] [Related]
8. [From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].
van Ravenswaaij-Arts CM; Losekoot M
Ned Tijdschr Geneeskd; 2001 Jun; 145(22):1056-9. PubMed ID: 11414167
[TBL] [Abstract][Full Text] [Related]
9. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Tavormina PL; Shiang R; Thompson LM; Zhu YZ; Wilkin DJ; Lachman RS; Wilcox WR; Rimoin DL; Cohn DH; Wasmuth JJ
Nat Genet; 1995 Mar; 9(3):321-8. PubMed ID: 7773297
[TBL] [Abstract][Full Text] [Related]
10. Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases.
van der Harten HJ; Brons JT; Dijkstra PF; Barth PG; Niermeyer MF; Meijer CJ; van Geijn HP; Arts NF
Clin Dysmorphol; 1993 Jan; 2(1):1-19. PubMed ID: 8298733
[TBL] [Abstract][Full Text] [Related]
11. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Katsumata N; Kuno T; Miyazaki S; Mikami S; Nagashima-Miyokawa A; Nimura A; Horikawa R; Tanaka T
Endocr J; 1998 Apr; 45 Suppl():S171-4. PubMed ID: 9790257
[TBL] [Abstract][Full Text] [Related]
12. Thanatophoric dysplasia type I with syndactyly.
Brodie SG; Kitoh H; Lipson M; Sifry-Platt M; Wilcox WR
Am J Med Genet; 1998 Nov; 80(3):260-2. PubMed ID: 9843049
[TBL] [Abstract][Full Text] [Related]
13. Some chondrodysplasias with short limbs: molecular perspectives.
Cohen MM
Am J Med Genet; 2002 Oct; 112(3):304-13. PubMed ID: 12357475
[TBL] [Abstract][Full Text] [Related]
14. An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys).
Camera G; Baldi M; Baffico M; Pozzolo S
Am J Med Genet; 1997 Jul; 71(1):122-3. PubMed ID: 9215781
[No Abstract] [Full Text] [Related]
15. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
Kimura M; Ichimura S; Sasaki K; Masuya H; Suzuki T; Wakana S; Ikegawa S; Furuichi T
Biochem Biophys Res Commun; 2015 Dec 4-11; 468(1-2):86-91. PubMed ID: 26545783
[TBL] [Abstract][Full Text] [Related]
16. [Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].
Rousseau F; Bonaventure J; Le Merrer M; Maroteaux P; Munnich A
Ann Endocrinol (Paris); 1996; 57(3):153. PubMed ID: 8949408
[No Abstract] [Full Text] [Related]
17. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
Zhen L; Pan M; Han J; Yang X; Liao C; Li DZ
J Obstet Gynaecol; 2015; 35(7):685-7. PubMed ID: 25671245
[TBL] [Abstract][Full Text] [Related]
18. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
Chen CP; Chern SR; Chang TY; Lin CJ; Wang W; Tzen CY
Prenat Diagn; 2002 Aug; 22(8):736-7. PubMed ID: 12210587
[No Abstract] [Full Text] [Related]
19. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
Chen CP; Chern SR; Wang W; Wang TY
Ultrasound Obstet Gynecol; 2001 Mar; 17(3):272-3. PubMed ID: 11309183
[No Abstract] [Full Text] [Related]
20. Long-term survival in typical thanatophoric dysplasia type 1.
Baker KM; Olson DS; Harding CO; Pauli RM
Am J Med Genet; 1997 Jun; 70(4):427-36. PubMed ID: 9182787
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
